Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa
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DOI: 10.1111/cge.14207
Abstract: Non‐syndromic retinitis pigmentosa (NSRP) is a clinically and genetically heterogeneous group of disorders characterized by progressive degeneration of the rod and cone photoreceptors, often leading to blindness. The evolving association of syndromic genes to cause… read more here.
Keywords: mvk; variant; syndromic retinitis; retinitis pigmentosa ... See more keywords
Clinical and genetic investigations in Chinese families with retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2022 at "Experimental Biology and Medicine"
DOI: 10.1177/15353702221085711
Abstract: To describe clinical and genetic characteristics in a series of Chinese patients with non-syndromic retinitis pigmentosa, a total of 20 unrelated Chinese pedigrees with non-syndromic retinitis pigmentosa were evaluated. Complete ophthalmic examinations data including the… read more here.
Keywords: retinitis; retinitis pigmentosa; clinical genetic; non syndromic ... See more keywords